Jain Foundation
Encyclopedia
The Jain Foundation is a non-profit organization
located in Bellevue, Washington, whose mission is to cure muscular dystrophies caused by dysferlin
protein deficiency. These dystrophies are collectively termed dysferlinopathy
, and include Limb-girdle muscular dystrophy
type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1).
The Jain Foundation funds research projects around the world to better understand and develop therapies for this rare disease and plays an active role in managing the projects it funds. In addition to requiring accountability and transparency, the Jain Foundation encourages the sharing of ideas and resources between research teams in order to maximize efficiency and hasten development of a cure for dysferlinopathy. The Jain Foundation also supports diagnosis of dysferlinopathy patients at the genetic level to enable rigorous natural history analysis of the clinical progression of dysferlinopathy.
is the scarcity of patients who have been analyzed genetically and confirmed to have mutations in the dysferlin
gene, making it difficult to rigorously characterize the clinical phenotype and progression of dysferlin deficiency, particularly because this disease is so variable. The dysferlin gene is large, which increases the difficulty and cost of dysferlin sequencing. Furthermore, since gene sequencing does not currently affect the clinical management of patients, it is usually not covered by health insurance.
To help address these issues, the Jain Foundation maintains a worldwide registry for all patients who have been diagnosed with dysferlinopathy, supports genetic diagnosis of qualified patients, and works to educate physicians on the importance of genetic testing for their patients.
a) An in-house, full-time scientific team to review grant proposals and manage funded projects, as opposed to an external scientific advisory committee.
b) An interactive project management process, including direct input into the aims and design of each project, and close communication with funded researchers.
c) Required bimonthly updates (in the style of lab meetings) with funded researchers to help them identify and address roadblocks.
d) Active efforts to foster collaborations and exchange of resources between funded laboratories.
e) Generation and distribution of research tools and reagents, including DNA constructs, antibodies, cell lines, and animal models that are essential for many of these research projects.
Non-profit organization
Nonprofit organization is neither a legal nor technical definition but generally refers to an organization that uses surplus revenues to achieve its goals, rather than distributing them as profit or dividends...
located in Bellevue, Washington, whose mission is to cure muscular dystrophies caused by dysferlin
Dysferlin
Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene.Dysferlin is linked with skeletal muscle repair. A defect in the DYSF gene, located on chromosome 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy ...
protein deficiency. These dystrophies are collectively termed dysferlinopathy
Dysferlinopathy
Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional dysferlin protein due to mutations in the dysferlin gene...
, and include Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy...
type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1).
The Jain Foundation funds research projects around the world to better understand and develop therapies for this rare disease and plays an active role in managing the projects it funds. In addition to requiring accountability and transparency, the Jain Foundation encourages the sharing of ideas and resources between research teams in order to maximize efficiency and hasten development of a cure for dysferlinopathy. The Jain Foundation also supports diagnosis of dysferlinopathy patients at the genetic level to enable rigorous natural history analysis of the clinical progression of dysferlinopathy.
Patient Registry
A major obstacle in finding a cure for dysferlinopathyDysferlinopathy
Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional dysferlin protein due to mutations in the dysferlin gene...
is the scarcity of patients who have been analyzed genetically and confirmed to have mutations in the dysferlin
Dysferlin
Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene.Dysferlin is linked with skeletal muscle repair. A defect in the DYSF gene, located on chromosome 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy ...
gene, making it difficult to rigorously characterize the clinical phenotype and progression of dysferlin deficiency, particularly because this disease is so variable. The dysferlin gene is large, which increases the difficulty and cost of dysferlin sequencing. Furthermore, since gene sequencing does not currently affect the clinical management of patients, it is usually not covered by health insurance.
To help address these issues, the Jain Foundation maintains a worldwide registry for all patients who have been diagnosed with dysferlinopathy, supports genetic diagnosis of qualified patients, and works to educate physicians on the importance of genetic testing for their patients.
Funded Research Projects
The Jain Foundation funds basic and translational research that is focused towards understanding and curing dysferlinopathy. The research projects cover a wide range of topics, such as the role of dysferlin in muscle, the pathology of dysferlin deficiency, and approaches to treatment.Research Funding Model
The Jain Foundation funds research using a non-traditional funding model, including:a) An in-house, full-time scientific team to review grant proposals and manage funded projects, as opposed to an external scientific advisory committee.
b) An interactive project management process, including direct input into the aims and design of each project, and close communication with funded researchers.
c) Required bimonthly updates (in the style of lab meetings) with funded researchers to help them identify and address roadblocks.
d) Active efforts to foster collaborations and exchange of resources between funded laboratories.
e) Generation and distribution of research tools and reagents, including DNA constructs, antibodies, cell lines, and animal models that are essential for many of these research projects.